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Stem Cell Res. 2018 May;29:134-138. doi: 10.1016/j.scr.2018.03.019. Epub 2018 Apr 3.

Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.

Author information

1
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
2
Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, Taiwan.
3
Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Pharmacology, National Yang-Ming University, Taipei, Taiwan.
4
Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
5
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan.
6
Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan.
7
School of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Neurosurgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
8
Department of Ophthalmology, Shin Kong Wu Ho-Su Memorial Hospital & Fu-Jen Catholic University, Taipei, Taiwan.
9
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Institute of Pharmacology, National Yang-Ming University, Taipei, Taiwan. Electronic address: shchiou1130@gmail.com.

Abstract

Best disease (BD), also termed Best vitelliform macular dystrophy (BVMD), is a juvenile-onset form of macular degeneration and central visual loss. In this report, we generated an induced pluripotent stem cell (iPSC) line, TVGH-iPSC-012-04, from the peripheral blood mononuclear cells of a female patient with BD by using the Sendai virus delivery system. The resulting iPSCs retained the disease-causing DNA mutation, expressed pluripotent markers and could differentiate into three germ layers. We believe that BD patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease.

PMID:
29660606
DOI:
10.1016/j.scr.2018.03.019
[Indexed for MEDLINE]
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